The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. (Q50644810)

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scientific article published on 31 July 2014

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English	The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.	scientific article published on 31 July 2014

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scholarly article

1 reference

Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. (English)

1 reference

Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

retinitis pigmentosa

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based on heuristic

inferred from title

Yoshihiro Hotta

object named as

Yoshihiro Hotta

19

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author name string

Yang Zhao

1

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Katsuhiro Hosono

2

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Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

Kimiko Suto

3

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Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

Chie Ishigami

4

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Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

Yuuki Arai

5

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Europe PubMed Central

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http://europepmc.org/abstract/MED/25078356

Akiko Hikoya

6

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Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

Yasuhiko Hirami

7

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Europe PubMed Central

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http://europepmc.org/abstract/MED/25078356

Masafumi Ohtsubo

8

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Europe PubMed Central

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http://europepmc.org/abstract/MED/25078356

Shinji Ueno

9

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Hiroko Terasaki

10

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Miho Sato

11

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http://europepmc.org/abstract/MED/25078356

Hiroshi Nakanishi

12

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Shiori Endo

13

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Kunihiro Mizuta

14

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Hiroyuki Mineta

15

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Mineo Kondo

16

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Masayo Takahashi

17

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17 March 2018

http://europepmc.org/abstract/MED/25078356

Shinsei Minoshima

18

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http://europepmc.org/abstract/MED/25078356

publication date

31 July 2014

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http://europepmc.org/abstract/MED/25078356

Journal of Human Genetics

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http://europepmc.org/abstract/MED/25078356

59

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http://europepmc.org/abstract/MED/25078356

521-528

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http://europepmc.org/abstract/MED/25078356

9

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http://europepmc.org/abstract/MED/25078356

https://scigraph.springernature.com/pub.10.1038/jhg.2014.65

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Genetics and pathological mechanisms of Usher syndrome

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https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

EYS is a major gene for rod-cone dystrophies in France.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.65

21 January 2018

Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25078356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/JHG.2014.65

1 reference

Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

1 reference

Europe PubMed Central

17 March 2018

http://europepmc.org/abstract/MED/25078356

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